A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17480954



Internal ID22538858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46536189..46539488hg38UCSC Ensembl
chr21:47956102..47959401hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383300
hg193300
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5872459
Supporting Variants
Samples
Known GenesDIP2A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17480954
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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